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Numerous neuropathologic and imaging studies have reported different structural abnormalities in the brains of autistic subjects. However, whether or not the degree of brain abnormality is correlated with the severity of developmental impairment in autistic disorder is still unknown. The midsagittal area of the cerebrum, corpus callosum, midbrain,(More)
Polysomnography (EOG, EEG, EMG) was carried out in 17 male children and adolescents with autistic disorder, in seven patients with mental retardation and fragile X syndrome, and in five age- and sex-matched normal male subjects. Density of rapid eye movements was not significantly different in the three groups of subjects; however, some sleep parameters(More)
Eyelid myoclonia with absences is a rare epileptic syndrome, characterized by eyelid myoclonia, absences, and photosensitivity. On the basis of its clinical and EEG features, this syndrome has been classified as a specific new entity among the idiopathic generalized epilepsies. We report three subjects, aged 4, 16, and 31 years, respectively, with eyelid(More)
Bloodstream infections due to Staphylococcus aureus (BSI) are serious infections both in hospitals and in the community, possibly leading to infective endocarditis (IE). The use of glycopeptides has been recently challenged by various forms of low-level resistance. This study evaluated the distribution of MSSA and MRSA isolates from BSI and IE in 4 Italian(More)
OBJECTIVE To determine if laminin-alpha2 deficiency is due to mutations in the LAMA2 gene or secondary to mutations in other congenital muscular dystrophy genes. METHODS We performed molecular analysis of LAMA2, by single-strand conformation polymorphism and sequencing, in 15 patients with undetectable or greatly reduced laminin-alpha2 expression. We also(More)
Intellectual disability (ID) and autism spectrum disorders (ASD) are genetically heterogeneous, and a significant number of genes have been associated with both conditions. A few mutations in POGZ have been reported in recent exome studies; however, these studies do not provide detailed clinical information. We collected the clinical and molecular data of(More)
We report the case of a 7 year old boy with fragile-X syndrome and epilepsy. In this patient, the detection of rolandic epileptiform potentials during sleep and hand tapping-evoked rolandic EEG spikes, together with giant somatosensory evoked potentials, further support the already suggested neurophysiological similarities between fragile-X syndrome and(More)
Middle-latency somatosensory evoked potentials (MLSEPs) were recorded from 19 scalp electrodes in ten male patients with the fragile X (fraX) syndrome and nine normal controls. One fraX patient was found presenting the so-called "giant" MLSEPs with an amplitude of N60 of about 60 microV and of 40 microV after stimulation of the right and left median nerves,(More)